17p13.3 Microduplication Syndrome: further delineating the clinical spectrum

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dc.contributor.author Farra, Chantal
dc.contributor.author Abdouni, Lina
dc.contributor.author Hani, Abeer
dc.contributor.author Dirani, Leyla
dc.contributor.author Hamdar, Layal
dc.contributor.author Souaid, Mirna
dc.contributor.author Awwad, Johnny
dc.date.accessioned 2022-07-07T09:56:09Z
dc.date.available 2022-07-07T09:56:09Z
dc.date.copyright 2021 en_US
dc.date.issued 2022-07-06
dc.identifier.issn 2146-4596 en_US
dc.identifier.uri http://hdl.handle.net/10725/13795
dc.description.abstract 17p13.3 microduplication syndrome has been associated with a clinical spectrum of phenotypes, and depending on the genes involved in the microduplication, it is categorized into two classes (Class I and Class II). We herein, describe two patients diagnosed with Class I 17p13.3 microduplication by BACs-on-Beads (BoBs) assay and further confirmed by fluorescence in situ hybridization (FISH). Our patients (Patient 1: 4-year-old male; Patient 2: 2-year-old male) presented with developmental delay, intellectual disability, and dysmorphic facial features. When compared with the literature, our patients manifested distinctive features (Patient 1: primary hypothyroidism; Patient 2: bilateral cryptorchidism) that were not previously described in the duplication 17p13.3 spectrum. en_US
dc.language.iso en en_US
dc.title 17p13.3 Microduplication Syndrome: further delineating the clinical spectrum en_US
dc.type Article en_US
dc.description.version Published en_US
dc.author.school SOM en_US
dc.author.idnumber 201509120 en_US
dc.author.department N/A en_US
dc.relation.journal Journal of Pediatric Genetics en_US
dc.journal.volume 10 en_US
dc.journal.issue 3 en_US
dc.article.pages 239-244 en_US
dc.keywords 17p13.3 microduplications en_US
dc.keywords Developmental delay en_US
dc.keywords Dysmorphic features en_US
dc.identifier.doi https://doi.org/10.1055/s-0040-1713673 en_US
dc.identifier.ctation Farra, C., Abdouni, L., Hani, A., Dirani, L., Hamdar, L., Souaid, M., & Awwad, J. (2021). 17p13. 3 Microduplication Syndrome: Further Delineating the Clinical Spectrum. Journal of Pediatric Genetics, 10(03), 239-244. en_US
dc.author.email abeer.hani@lau.edu.lb en_US
dc.identifier.tou http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php en_US
dc.identifier.url https://www.thieme-connect.com/products/ejournals/abstract/10.1055/s-0040-1713673 en_US
dc.orcid.id https://orcid.org/0000-0002-5058-5823 en_US
dc.author.affiliation Lebanese American University en_US

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